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CAS Key Lab of Computational Biology Seminar (Apr. 23)
2018-04-19
 
Speaker: Lining Guo, Ph.D.

                Vice President of Project

                Management, Metabolon


Host: Prof. Zefeng Wang

          CAS Key Lab of Computational Biology, 

          CAS-MPG Partner Institute for Computational Biology,

          Shanghai Institute of Nutrition and Health, CAS


Title: Metabolomics in Precision Medicine: From big data to individual genetic risk assessment and disease management


Time: Apr. 23, 11:00 amMonday),2018


Venue: Room 315, SIBS Main Building

             320 Yueyang Road, Shanghai


Abstract:

The human metabolome represents a high resolution intermediate phenotype that bridges the impact of genetics, non-genetic factors, and health/disease end points. Genetic factors modifying the blood metabolome have been investigated through GWAS of common, low frequency, and rare genetic variants. Population analysis has further provided insights on the natural variation and regulation of human plasma metabolome. Based on the knowledge we have learnt from large cohort studies, we combined metabolomics and whole genome/exome sequencing in individual clinical cases and provided novel insights to:

1). Clarifying sequence variants of unknown significance (VUS).

2). Identifying metabolic defects in undiagnosed disease cases leading to clinical intervention, and

3). Identifying drug toxicity and responsiveness. Metabolomics in Precision Medicine: From big data to individual genetic risk assessment and disease management.

    
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